MCID: SPN400
MIFTS: 21

Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Categories: Genetic diseases, Rare diseases, Bone diseases, Muscle diseases

Aliases & Classifications for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

MalaCards integrated aliases for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

Name: Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures 57
Spinal Muscular Atrophy with Congenital Bone Fractures 1 57 75 6
Spinal Muscular Atrophy Type 1 with Congenital Bone Fractures 53 29
Smabf1 57 75
Sma1 with Congenital Bone Fractures 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spinal muscular atrophy with congenital bone fractures 1:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance

spinal muscular atrophy, type i, with congenital bone fractures:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

UniProtKB/Swiss-Prot : 75 Spinal muscular atrophy with congenital bone fractures 1: An autosomal recessive neuromuscular disorder characterized by prenatal-onset spinal muscular atrophy, multiple congenital contractures consistent with arthrogryposis multiplex congenita, respiratory distress, and congenital bone fractures.

MalaCards based summary : Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures, is also known as spinal muscular atrophy with congenital bone fractures 1. An important gene associated with Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures is TRIP4 (Thyroid Hormone Receptor Interactor 4). Affiliated tissues include bone and heart, and related phenotypes are multiple prenatal fractures and acute infantile spinal muscular atrophy

Description from OMIM: 271225 616866

Related Diseases for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Symptoms & Phenotypes for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Symptoms via clinical synopsis from OMIM:

57
Neuro:
acute infantile spinal muscular atrophy

Skel:
congenital bone fractures


Clinical features from OMIM:

271225 616866

Human phenotypes related to Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 multiple prenatal fractures 32 very rare (1%) HP:0005855
2 acute infantile spinal muscular atrophy 32 HP:0007280
3 narrow mouth 32 very rare (1%) HP:0000160
4 high palate 32 very rare (1%) HP:0000218
5 microretrognathia 32 very rare (1%) HP:0000308
6 hypertelorism 32 very rare (1%) HP:0000316
7 hypohidrosis 32 very rare (1%) HP:0000966
8 global developmental delay 32 very rare (1%) HP:0001263
9 areflexia 32 very rare (1%) HP:0001284
10 generalized hypotonia 32 HP:0001290
11 muscle weakness 32 very rare (1%) HP:0001324
12 decreased fetal movement 32 very rare (1%) HP:0001558
13 oligohydramnios 32 very rare (1%) HP:0001562
14 premature birth 32 very rare (1%) HP:0001622
15 congestive heart failure 32 very rare (1%) HP:0001635
16 cardiomyopathy 32 very rare (1%) HP:0001638
17 patent ductus arteriosus 32 very rare (1%) HP:0001643
18 patent foramen ovale 32 very rare (1%) HP:0001655
19 secundum atrial septal defect 32 very rare (1%) HP:0001684
20 dysphagia 32 very rare (1%) HP:0002015
21 pulmonary hypoplasia 32 very rare (1%) HP:0002089
22 neonatal respiratory distress 32 very rare (1%) HP:0002643
23 arthrogryposis multiplex congenita 32 very rare (1%) HP:0002804
24 peripheral axonal neuropathy 32 HP:0003477
25 increased variability in muscle fiber diameter 32 very rare (1%) HP:0003557
26 generalized amyotrophy 32 HP:0003700
27 severe muscular hypotonia 32 very rare (1%) HP:0006829
28 spinal muscular atrophy 32 HP:0007269
29 diaphragmatic eventration 32 HP:0009110
30 muscle fiber atrophy 32 very rare (1%) HP:0100295

Drugs & Therapeutics for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Genetic Tests for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Genetic tests related to Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy Type 1 with Congenital Bone Fractures 29

Anatomical Context for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

MalaCards organs/tissues related to Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

41
Bone, Heart

Publications for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Variations for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

ClinVar genetic disease variations for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIP4 NM_016213.4(TRIP4): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic rs869312827 GRCh37 Chromosome 15, 64698591: 64698591
2 TRIP4 NM_016213.4(TRIP4): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic rs869312827 GRCh38 Chromosome 15, 64406392: 64406392
3 TRIP4 NM_016213.4(TRIP4): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic rs761865592 GRCh37 Chromosome 15, 64701816: 64701816
4 TRIP4 NM_016213.4(TRIP4): c.832C> T (p.Arg278Ter) single nucleotide variant Pathogenic rs761865592 GRCh38 Chromosome 15, 64409617: 64409617

Expression for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures.

Pathways for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

GO Terms for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

Sources for Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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